UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839169_112841264del | CA645543580 | APC | c.3629_5724del (p.Lys1210ArgfsTer3) c.*3581_*5676del (n.*3581_*5676del) c.3521_5616del (p.Lys1174ArgfsTer3) c.3575_5670del (p.Lys1192ArgfsTer3) c.*2897_*4992del (n.*2897_*4992del) c.230+10197_230+12292del c.3605_5700del (p.Lys1202ArgfsTer3) c.3500_5595del (p.Lys1167ArgfsTer3) c.3491_5586del (p.Lys1164ArgfsTer3) c.3452_5547del (p.Lys1151ArgfsTer3) c.3398_5493del (p.Lys1133ArgfsTer3) c.3302_5397del (p.Lys1101ArgfsTer3) c.3272_5367del (p.Lys1091ArgfsTer3) c.3197_5292del (p.Lys1066ArgfsTer3) c.3095_5190del (p.Lys1032ArgfsTer3) c.2726_4821del (p.Lys909ArgfsTer3) | COSMIC |
| 5 | g.112840128_112843000del | CA2582341313 | APC | c.4588_7460del (p.Asp1530Ter) c.*4540_*7412del (n.*4540_*7412del) c.4480_7352del (p.Asp1494Ter) c.4534_7406del (p.Asp1512Ter) c.230+11156_231-13649del c.4564_7436del (p.Asp1522Ter) c.4459_7331del (p.Asp1487Ter) c.4450_7322del (p.Asp1484Ter) c.4411_7283del (p.Asp1471Ter) c.4357_7229del (p.Asp1453Ter) c.4261_7133del (p.Asp1421Ter) c.4231_7103del (p.Asp1411Ter) c.4156_7028del (p.Asp1386Ter) c.4054_6926del (p.Asp1352Ter) c.3685_6557del (p.Asp1229Ter) | ClinVar |
| 5 | g.112840828_112841134delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC | CA1573474922 | APC | c.5288_5594delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1763=) c.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*5240_*5546delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC) c.5180_5486delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1727=) c.5234_5540delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1745=) c.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (n.*4556_*4862delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC) c.230+11856_230+12162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC c.5264_5570delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1755=) c.5159_5465delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1720=) c.5150_5456delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1717=) c.5111_5417delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1704=) c.5057_5363delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1686=) c.4961_5267delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1654=) c.4931_5237delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1644=) c.4856_5162delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1619=) c.4754_5060delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1585=) c.4385_4691delinsAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACAC (p.Lys1462=) | |
| 5 | g.112840830_112841135del | CA1139659018 | APC | c.5290_5595del (p.Ile1764_Thr1865del) c.*5242_*5547del (n.*5242_*5547del) c.5182_5487del (p.Ile1728_Thr1829del) c.5236_5541del (p.Ile1746_Thr1847del) c.*4558_*4863del (n.*4558_*4863del) c.230+11858_230+12163del c.5266_5571del (p.Ile1756_Thr1857del) c.5161_5466del (p.Ile1721_Thr1822del) c.5152_5457del (p.Ile1718_Thr1819del) c.5113_5418del (p.Ile1705_Thr1806del) c.5059_5364del (p.Ile1687_Thr1788del) c.4963_5268del (p.Ile1655_Thr1756del) c.4933_5238del (p.Ile1645_Thr1746del) c.4858_5163del (p.Ile1620_Thr1721del) c.4756_5061del (p.Ile1586_Thr1687del) c.4387_4692del (p.Ile1463_Thr1564del) | ClinVar dbSNP |
| 5 | g.112840984dup | CA446208834 | APC | c.5444dup (p.Asn1815LysfsTer2) c.*5396dup (n.*5396dup) c.5336dup (p.Asn1779LysfsTer2) c.5390dup (p.Asn1797LysfsTer2) c.*4712dup (n.*4712dup) c.230+12012dup c.5420dup (p.Asn1807LysfsTer2) c.5315dup (p.Asn1772LysfsTer2) c.5306dup (p.Asn1769LysfsTer2) c.5267dup (p.Asn1756LysfsTer2) c.5213dup (p.Asn1738LysfsTer2) c.5117dup (p.Asn1706LysfsTer2) c.5087dup (p.Asn1696LysfsTer2) c.5012dup (p.Asn1671LysfsTer2) c.4910dup (p.Asn1637LysfsTer2) c.4541dup (p.Asn1514LysfsTer2) | ClinVar gnomAD v4 COSMIC |
| 5 | g.112840984A= | CA1573476053 | APC | c.5444A= (p.Asn1815=) c.*5396A= (n.*5396A=) c.5336A= (p.Asn1779=) c.5390A= (p.Asn1797=) c.*4712A= (n.*4712A=) c.230+12012A= c.5420A= (p.Asn1807=) c.5315A= (p.Asn1772=) c.5306A= (p.Asn1769=) c.5267A= (p.Asn1756=) c.5213A= (p.Asn1738=) c.5117A= (p.Asn1706=) c.5087A= (p.Asn1696=) c.5012A= (p.Asn1671=) c.4910A= (p.Asn1637=) c.4541A= (p.Asn1514=) | |
| 5 | g.112840984A>C | CA16033111 | APC | c.5444A>C (p.Asn1815Thr) c.*5396A>C (n.*5396A>C) c.5336A>C (p.Asn1779Thr) c.5390A>C (p.Asn1797Thr) c.*4712A>C (n.*4712A>C) c.230+12012A>C c.5420A>C (p.Asn1807Thr) c.5315A>C (p.Asn1772Thr) c.5306A>C (p.Asn1769Thr) c.5267A>C (p.Asn1756Thr) c.5213A>C (p.Asn1738Thr) c.5117A>C (p.Asn1706Thr) c.5087A>C (p.Asn1696Thr) c.5012A>C (p.Asn1671Thr) c.4910A>C (p.Asn1637Thr) c.4541A>C (p.Asn1514Thr) | dbSNP gnomAD v4 |
| 5 | g.112840984A>G | CA16033112 | APC | c.5444A>G (p.Asn1815Ser) c.*5396A>G (n.*5396A>G) c.5336A>G (p.Asn1779Ser) c.5390A>G (p.Asn1797Ser) c.*4712A>G (n.*4712A>G) c.230+12012A>G c.5420A>G (p.Asn1807Ser) c.5315A>G (p.Asn1772Ser) c.5306A>G (p.Asn1769Ser) c.5267A>G (p.Asn1756Ser) c.5213A>G (p.Asn1738Ser) c.5117A>G (p.Asn1706Ser) c.5087A>G (p.Asn1696Ser) c.5012A>G (p.Asn1671Ser) c.4910A>G (p.Asn1637Ser) c.4541A>G (p.Asn1514Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840984A>T | CA16033113 | APC | c.5444A>T (p.Asn1815Ile) c.*5396A>T (n.*5396A>T) c.5336A>T (p.Asn1779Ile) c.5390A>T (p.Asn1797Ile) c.*4712A>T (n.*4712A>T) c.230+12012A>T c.5420A>T (p.Asn1807Ile) c.5315A>T (p.Asn1772Ile) c.5306A>T (p.Asn1769Ile) c.5267A>T (p.Asn1756Ile) c.5213A>T (p.Asn1738Ile) c.5117A>T (p.Asn1706Ile) c.5087A>T (p.Asn1696Ile) c.5012A>T (p.Asn1671Ile) c.4910A>T (p.Asn1637Ile) c.4541A>T (p.Asn1514Ile) | dbSNP |
| 5 | g.112840985T>A | CA16033114 | APC | c.5445T>A (p.Asn1815Lys) c.*5397T>A (n.*5397T>A) c.5337T>A (p.Asn1779Lys) c.5391T>A (p.Asn1797Lys) c.*4713T>A (n.*4713T>A) c.230+12013T>A c.5421T>A (p.Asn1807Lys) c.5316T>A (p.Asn1772Lys) c.5307T>A (p.Asn1769Lys) c.5268T>A (p.Asn1756Lys) c.5214T>A (p.Asn1738Lys) c.5118T>A (p.Asn1706Lys) c.5088T>A (p.Asn1696Lys) c.5013T>A (p.Asn1671Lys) c.4911T>A (p.Asn1637Lys) c.4542T>A (p.Asn1514Lys) | dbSNP |
| 5 | g.112840985T>C | CA446208839 | APC | c.5445T>C (p.Asn1815=) c.*5397T>C (n.*5397T>C) c.5337T>C (p.Asn1779=) c.5391T>C (p.Asn1797=) c.*4713T>C (n.*4713T>C) c.230+12013T>C c.5421T>C (p.Asn1807=) c.5316T>C (p.Asn1772=) c.5307T>C (p.Asn1769=) c.5268T>C (p.Asn1756=) c.5214T>C (p.Asn1738=) c.5118T>C (p.Asn1706=) c.5088T>C (p.Asn1696=) c.5013T>C (p.Asn1671=) c.4911T>C (p.Asn1637=) c.4542T>C (p.Asn1514=) | dbSNP |
| 5 | g.112840985T>G | CA16033115 | APC | c.5445T>G (p.Asn1815Lys) c.*5397T>G (n.*5397T>G) c.5337T>G (p.Asn1779Lys) c.5391T>G (p.Asn1797Lys) c.*4713T>G (n.*4713T>G) c.230+12013T>G c.5421T>G (p.Asn1807Lys) c.5316T>G (p.Asn1772Lys) c.5307T>G (p.Asn1769Lys) c.5268T>G (p.Asn1756Lys) c.5214T>G (p.Asn1738Lys) c.5118T>G (p.Asn1706Lys) c.5088T>G (p.Asn1696Lys) c.5013T>G (p.Asn1671Lys) c.4911T>G (p.Asn1637Lys) c.4542T>G (p.Asn1514Lys) | dbSNP |
| 5 | g.112840986A= | CA1573476067 | APC | c.5446A= (p.Asn1816=) c.*5398A= (n.*5398A=) c.5338A= (p.Asn1780=) c.5392A= (p.Asn1798=) c.*4714A= (n.*4714A=) c.230+12014A= c.5422A= (p.Asn1808=) c.5317A= (p.Asn1773=) c.5308A= (p.Asn1770=) c.5269A= (p.Asn1757=) c.5215A= (p.Asn1739=) c.5119A= (p.Asn1707=) c.5089A= (p.Asn1697=) c.5014A= (p.Asn1672=) c.4912A= (p.Asn1638=) c.4543A= (p.Asn1515=) | |
| 5 | g.112840986A>C | CA16033116 | APC | c.5446A>C (p.Asn1816His) c.*5398A>C (n.*5398A>C) c.5338A>C (p.Asn1780His) c.5392A>C (p.Asn1798His) c.*4714A>C (n.*4714A>C) c.230+12014A>C c.5422A>C (p.Asn1808His) c.5317A>C (p.Asn1773His) c.5308A>C (p.Asn1770His) c.5269A>C (p.Asn1757His) c.5215A>C (p.Asn1739His) c.5119A>C (p.Asn1707His) c.5089A>C (p.Asn1697His) c.5014A>C (p.Asn1672His) c.4912A>C (p.Asn1638His) c.4543A>C (p.Asn1515His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840986A>G | CA010373 | APC | c.5446A>G (p.Asn1816Asp) c.*5398A>G (n.*5398A>G) c.5338A>G (p.Asn1780Asp) c.5392A>G (p.Asn1798Asp) c.*4714A>G (n.*4714A>G) c.230+12014A>G c.5422A>G (p.Asn1808Asp) c.5317A>G (p.Asn1773Asp) c.5308A>G (p.Asn1770Asp) c.5269A>G (p.Asn1757Asp) c.5215A>G (p.Asn1739Asp) c.5119A>G (p.Asn1707Asp) c.5089A>G (p.Asn1697Asp) c.5014A>G (p.Asn1672Asp) c.4912A>G (p.Asn1638Asp) c.4543A>G (p.Asn1515Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840986A>T | CA16033117 | APC | c.5446A>T (p.Asn1816Tyr) c.*5398A>T (n.*5398A>T) c.5338A>T (p.Asn1780Tyr) c.5392A>T (p.Asn1798Tyr) c.*4714A>T (n.*4714A>T) c.230+12014A>T c.5422A>T (p.Asn1808Tyr) c.5317A>T (p.Asn1773Tyr) c.5308A>T (p.Asn1770Tyr) c.5269A>T (p.Asn1757Tyr) c.5215A>T (p.Asn1739Tyr) c.5119A>T (p.Asn1707Tyr) c.5089A>T (p.Asn1697Tyr) c.5014A>T (p.Asn1672Tyr) c.4912A>T (p.Asn1638Tyr) c.4543A>T (p.Asn1515Tyr) | dbSNP |
| 5 | g.112840987A>C | CA16033118 | APC | c.5447A>C (p.Asn1816Thr) c.*5399A>C (n.*5399A>C) c.5339A>C (p.Asn1780Thr) c.5393A>C (p.Asn1798Thr) c.*4715A>C (n.*4715A>C) c.230+12015A>C c.5423A>C (p.Asn1808Thr) c.5318A>C (p.Asn1773Thr) c.5309A>C (p.Asn1770Thr) c.5270A>C (p.Asn1757Thr) c.5216A>C (p.Asn1739Thr) c.5120A>C (p.Asn1707Thr) c.5090A>C (p.Asn1697Thr) c.5015A>C (p.Asn1672Thr) c.4913A>C (p.Asn1638Thr) c.4544A>C (p.Asn1515Thr) | |
| 5 | g.112840987A>G | CA16033119 | APC | c.5447A>G (p.Asn1816Ser) c.*5399A>G (n.*5399A>G) c.5339A>G (p.Asn1780Ser) c.5393A>G (p.Asn1798Ser) c.*4715A>G (n.*4715A>G) c.230+12015A>G c.5423A>G (p.Asn1808Ser) c.5318A>G (p.Asn1773Ser) c.5309A>G (p.Asn1770Ser) c.5270A>G (p.Asn1757Ser) c.5216A>G (p.Asn1739Ser) c.5120A>G (p.Asn1707Ser) c.5090A>G (p.Asn1697Ser) c.5015A>G (p.Asn1672Ser) c.4913A>G (p.Asn1638Ser) c.4544A>G (p.Asn1515Ser) | |
| 5 | g.112840987A>T | CA16033120 | APC | c.5447A>T (p.Asn1816Ile) c.*5399A>T (n.*5399A>T) c.5339A>T (p.Asn1780Ile) c.5393A>T (p.Asn1798Ile) c.*4715A>T (n.*4715A>T) c.230+12015A>T c.5423A>T (p.Asn1808Ile) c.5318A>T (p.Asn1773Ile) c.5309A>T (p.Asn1770Ile) c.5270A>T (p.Asn1757Ile) c.5216A>T (p.Asn1739Ile) c.5120A>T (p.Asn1707Ile) c.5090A>T (p.Asn1697Ile) c.5015A>T (p.Asn1672Ile) c.4913A>T (p.Asn1638Ile) c.4544A>T (p.Asn1515Ile) | |
| 5 | g.112840988T>A | CA16033121 | APC | c.5448T>A (p.Asn1816Lys) c.*5400T>A (n.*5400T>A) c.5340T>A (p.Asn1780Lys) c.5394T>A (p.Asn1798Lys) c.*4716T>A (n.*4716T>A) c.230+12016T>A c.5424T>A (p.Asn1808Lys) c.5319T>A (p.Asn1773Lys) c.5310T>A (p.Asn1770Lys) c.5271T>A (p.Asn1757Lys) c.5217T>A (p.Asn1739Lys) c.5121T>A (p.Asn1707Lys) c.5091T>A (p.Asn1697Lys) c.5016T>A (p.Asn1672Lys) c.4914T>A (p.Asn1638Lys) c.4545T>A (p.Asn1515Lys) | dbSNP |
| 5 | g.112840988T>C | CA446208840 | APC | c.5448T>C (p.Asn1816=) c.*5400T>C (n.*5400T>C) c.5340T>C (p.Asn1780=) c.5394T>C (p.Asn1798=) c.*4716T>C (n.*4716T>C) c.230+12016T>C c.5424T>C (p.Asn1808=) c.5319T>C (p.Asn1773=) c.5310T>C (p.Asn1770=) c.5271T>C (p.Asn1757=) c.5217T>C (p.Asn1739=) c.5121T>C (p.Asn1707=) c.5091T>C (p.Asn1697=) c.5016T>C (p.Asn1672=) c.4914T>C (p.Asn1638=) c.4545T>C (p.Asn1515=) | |
| 5 | g.112840988T>G | CA16033122 | APC | c.5448T>G (p.Asn1816Lys) c.*5400T>G (n.*5400T>G) c.5340T>G (p.Asn1780Lys) c.5394T>G (p.Asn1798Lys) c.*4716T>G (n.*4716T>G) c.230+12016T>G c.5424T>G (p.Asn1808Lys) c.5319T>G (p.Asn1773Lys) c.5310T>G (p.Asn1770Lys) c.5271T>G (p.Asn1757Lys) c.5217T>G (p.Asn1739Lys) c.5121T>G (p.Asn1707Lys) c.5091T>G (p.Asn1697Lys) c.5016T>G (p.Asn1672Lys) c.4914T>G (p.Asn1638Lys) c.4545T>G (p.Asn1515Lys) | |
| 5 | g.112840989T>A | CA16033123 | APC | c.5449T>A (p.Leu1817Ile) c.*5401T>A (n.*5401T>A) c.5341T>A (p.Leu1781Ile) c.5395T>A (p.Leu1799Ile) c.*4717T>A (n.*4717T>A) c.230+12017T>A c.5425T>A (p.Leu1809Ile) c.5320T>A (p.Leu1774Ile) c.5311T>A (p.Leu1771Ile) c.5272T>A (p.Leu1758Ile) c.5218T>A (p.Leu1740Ile) c.5122T>A (p.Leu1708Ile) c.5092T>A (p.Leu1698Ile) c.5017T>A (p.Leu1673Ile) c.4915T>A (p.Leu1639Ile) c.4546T>A (p.Leu1516Ile) | dbSNP |
| 5 | g.112840989T>C | CA446208841 | APC | c.5449T>C (p.Leu1817=) c.*5401T>C (n.*5401T>C) c.5341T>C (p.Leu1781=) c.5395T>C (p.Leu1799=) c.*4717T>C (n.*4717T>C) c.230+12017T>C c.5425T>C (p.Leu1809=) c.5320T>C (p.Leu1774=) c.5311T>C (p.Leu1771=) c.5272T>C (p.Leu1758=) c.5218T>C (p.Leu1740=) c.5122T>C (p.Leu1708=) c.5092T>C (p.Leu1698=) c.5017T>C (p.Leu1673=) c.4915T>C (p.Leu1639=) c.4546T>C (p.Leu1516=) | |
| 5 | g.112840989T>G | CA16033124 | APC | c.5449T>G (p.Leu1817Val) c.*5401T>G (n.*5401T>G) c.5341T>G (p.Leu1781Val) c.5395T>G (p.Leu1799Val) c.*4717T>G (n.*4717T>G) c.230+12017T>G c.5425T>G (p.Leu1809Val) c.5320T>G (p.Leu1774Val) c.5311T>G (p.Leu1771Val) c.5272T>G (p.Leu1758Val) c.5218T>G (p.Leu1740Val) c.5122T>G (p.Leu1708Val) c.5092T>G (p.Leu1698Val) c.5017T>G (p.Leu1673Val) c.4915T>G (p.Leu1639Val) c.4546T>G (p.Leu1516Val) | ClinVar |
| 5 | g.112840990T>A | CA16033125 | APC | c.5450T>A (p.Leu1817Ter) c.*5402T>A (n.*5402T>A) c.5342T>A (p.Leu1781Ter) c.5396T>A (p.Leu1799Ter) c.*4718T>A (n.*4718T>A) c.230+12018T>A c.5426T>A (p.Leu1809Ter) c.5321T>A (p.Leu1774Ter) c.5312T>A (p.Leu1771Ter) c.5273T>A (p.Leu1758Ter) c.5219T>A (p.Leu1740Ter) c.5123T>A (p.Leu1708Ter) c.5093T>A (p.Leu1698Ter) c.5018T>A (p.Leu1673Ter) c.4916T>A (p.Leu1639Ter) c.4547T>A (p.Leu1516Ter) | |
| 5 | g.112840990T>C | CA16033126 | APC | c.5450T>C (p.Leu1817Ser) c.*5402T>C (n.*5402T>C) c.5342T>C (p.Leu1781Ser) c.5396T>C (p.Leu1799Ser) c.*4718T>C (n.*4718T>C) c.230+12018T>C c.5426T>C (p.Leu1809Ser) c.5321T>C (p.Leu1774Ser) c.5312T>C (p.Leu1771Ser) c.5273T>C (p.Leu1758Ser) c.5219T>C (p.Leu1740Ser) c.5123T>C (p.Leu1708Ser) c.5093T>C (p.Leu1698Ser) c.5018T>C (p.Leu1673Ser) c.4916T>C (p.Leu1639Ser) c.4547T>C (p.Leu1516Ser) | |
| 5 | g.112840990T>G | CA16033127 | APC | c.5450T>G (p.Leu1817Ter) c.*5402T>G (n.*5402T>G) c.5342T>G (p.Leu1781Ter) c.5396T>G (p.Leu1799Ter) c.*4718T>G (n.*4718T>G) c.230+12018T>G c.5426T>G (p.Leu1809Ter) c.5321T>G (p.Leu1774Ter) c.5312T>G (p.Leu1771Ter) c.5273T>G (p.Leu1758Ter) c.5219T>G (p.Leu1740Ter) c.5123T>G (p.Leu1708Ter) c.5093T>G (p.Leu1698Ter) c.5018T>G (p.Leu1673Ter) c.4916T>G (p.Leu1639Ter) c.4547T>G (p.Leu1516Ter) | ClinVar |
| 5 | g.112840991A>C | CA16033128 | APC | c.5451A>C (p.Leu1817Phe) c.*5403A>C (n.*5403A>C) c.5343A>C (p.Leu1781Phe) c.5397A>C (p.Leu1799Phe) c.*4719A>C (n.*4719A>C) c.230+12019A>C c.5427A>C (p.Leu1809Phe) c.5322A>C (p.Leu1774Phe) c.5313A>C (p.Leu1771Phe) c.5274A>C (p.Leu1758Phe) c.5220A>C (p.Leu1740Phe) c.5124A>C (p.Leu1708Phe) c.5094A>C (p.Leu1698Phe) c.5019A>C (p.Leu1673Phe) c.4917A>C (p.Leu1639Phe) c.4548A>C (p.Leu1516Phe) | |
| 5 | g.112840991A>G | CA446208843 | APC | c.5451A>G (p.Leu1817=) c.*5403A>G (n.*5403A>G) c.5343A>G (p.Leu1781=) c.5397A>G (p.Leu1799=) c.*4719A>G (n.*4719A>G) c.230+12019A>G c.5427A>G (p.Leu1809=) c.5322A>G (p.Leu1774=) c.5313A>G (p.Leu1771=) c.5274A>G (p.Leu1758=) c.5220A>G (p.Leu1740=) c.5124A>G (p.Leu1708=) c.5094A>G (p.Leu1698=) c.5019A>G (p.Leu1673=) c.4917A>G (p.Leu1639=) c.4548A>G (p.Leu1516=) | ClinVar |
| 5 | g.112840991A>T | CA16033129 | APC | c.5451A>T (p.Leu1817Phe) c.*5403A>T (n.*5403A>T) c.5343A>T (p.Leu1781Phe) c.5397A>T (p.Leu1799Phe) c.*4719A>T (n.*4719A>T) c.230+12019A>T c.5427A>T (p.Leu1809Phe) c.5322A>T (p.Leu1774Phe) c.5313A>T (p.Leu1771Phe) c.5274A>T (p.Leu1758Phe) c.5220A>T (p.Leu1740Phe) c.5124A>T (p.Leu1708Phe) c.5094A>T (p.Leu1698Phe) c.5019A>T (p.Leu1673Phe) c.4917A>T (p.Leu1639Phe) c.4548A>T (p.Leu1516Phe) | dbSNP |
| 5 | g.112840992A>C | CA16033130 | APC | c.5452A>C (p.Asn1818His) c.*5404A>C (n.*5404A>C) c.5344A>C (p.Asn1782His) c.5398A>C (p.Asn1800His) c.*4720A>C (n.*4720A>C) c.230+12020A>C c.5428A>C (p.Asn1810His) c.5323A>C (p.Asn1775His) c.5314A>C (p.Asn1772His) c.5275A>C (p.Asn1759His) c.5221A>C (p.Asn1741His) c.5125A>C (p.Asn1709His) c.5095A>C (p.Asn1699His) c.5020A>C (p.Asn1674His) c.4918A>C (p.Asn1640His) c.4549A>C (p.Asn1517His) | |
| 5 | g.112840992A>G | CA16033131 | APC | c.5452A>G (p.Asn1818Asp) c.*5404A>G (n.*5404A>G) c.5344A>G (p.Asn1782Asp) c.5398A>G (p.Asn1800Asp) c.*4720A>G (n.*4720A>G) c.230+12020A>G c.5428A>G (p.Asn1810Asp) c.5323A>G (p.Asn1775Asp) c.5314A>G (p.Asn1772Asp) c.5275A>G (p.Asn1759Asp) c.5221A>G (p.Asn1741Asp) c.5125A>G (p.Asn1709Asp) c.5095A>G (p.Asn1699Asp) c.5020A>G (p.Asn1674Asp) c.4918A>G (p.Asn1640Asp) c.4549A>G (p.Asn1517Asp) | dbSNP |
| 5 | g.112840992A>T | CA16033132 | APC | c.5452A>T (p.Asn1818Tyr) c.*5404A>T (n.*5404A>T) c.5344A>T (p.Asn1782Tyr) c.5398A>T (p.Asn1800Tyr) c.*4720A>T (n.*4720A>T) c.230+12020A>T c.5428A>T (p.Asn1810Tyr) c.5323A>T (p.Asn1775Tyr) c.5314A>T (p.Asn1772Tyr) c.5275A>T (p.Asn1759Tyr) c.5221A>T (p.Asn1741Tyr) c.5125A>T (p.Asn1709Tyr) c.5095A>T (p.Asn1699Tyr) c.5020A>T (p.Asn1674Tyr) c.4918A>T (p.Asn1640Tyr) c.4549A>T (p.Asn1517Tyr) | dbSNP |
| 5 | g.112840993A= | CA1573476076 | APC | c.5453A= (p.Asn1818=) c.*5405A= (n.*5405A=) c.5345A= (p.Asn1782=) c.5399A= (p.Asn1800=) c.*4721A= (n.*4721A=) c.230+12021A= c.5429A= (p.Asn1810=) c.5324A= (p.Asn1775=) c.5315A= (p.Asn1772=) c.5276A= (p.Asn1759=) c.5222A= (p.Asn1741=) c.5126A= (p.Asn1709=) c.5096A= (p.Asn1699=) c.5021A= (p.Asn1674=) c.4919A= (p.Asn1640=) c.4550A= (p.Asn1517=) | |
| 5 | g.112840993A>C | CA16033133 | APC | c.5453A>C (p.Asn1818Thr) c.*5405A>C (n.*5405A>C) c.5345A>C (p.Asn1782Thr) c.5399A>C (p.Asn1800Thr) c.*4721A>C (n.*4721A>C) c.230+12021A>C c.5429A>C (p.Asn1810Thr) c.5324A>C (p.Asn1775Thr) c.5315A>C (p.Asn1772Thr) c.5276A>C (p.Asn1759Thr) c.5222A>C (p.Asn1741Thr) c.5126A>C (p.Asn1709Thr) c.5096A>C (p.Asn1699Thr) c.5021A>C (p.Asn1674Thr) c.4919A>C (p.Asn1640Thr) c.4550A>C (p.Asn1517Thr) | ClinVar dbSNP |
| 5 | g.112840993A>G | CA10578402 | APC | c.5453A>G (p.Asn1818Ser) c.*5405A>G (n.*5405A>G) c.5345A>G (p.Asn1782Ser) c.5399A>G (p.Asn1800Ser) c.*4721A>G (n.*4721A>G) c.230+12021A>G c.5429A>G (p.Asn1810Ser) c.5324A>G (p.Asn1775Ser) c.5315A>G (p.Asn1772Ser) c.5276A>G (p.Asn1759Ser) c.5222A>G (p.Asn1741Ser) c.5126A>G (p.Asn1709Ser) c.5096A>G (p.Asn1699Ser) c.5021A>G (p.Asn1674Ser) c.4919A>G (p.Asn1640Ser) c.4550A>G (p.Asn1517Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840993A>T | CA16033134 | APC | c.5453A>T (p.Asn1818Ile) c.*5405A>T (n.*5405A>T) c.5345A>T (p.Asn1782Ile) c.5399A>T (p.Asn1800Ile) c.*4721A>T (n.*4721A>T) c.230+12021A>T c.5429A>T (p.Asn1810Ile) c.5324A>T (p.Asn1775Ile) c.5315A>T (p.Asn1772Ile) c.5276A>T (p.Asn1759Ile) c.5222A>T (p.Asn1741Ile) c.5126A>T (p.Asn1709Ile) c.5096A>T (p.Asn1699Ile) c.5021A>T (p.Asn1674Ile) c.4919A>T (p.Asn1640Ile) c.4550A>T (p.Asn1517Ile) | |
| 5 | g.112840994T>A | CA16033135 | APC | c.5454T>A (p.Asn1818Lys) c.*5406T>A (n.*5406T>A) c.5346T>A (p.Asn1782Lys) c.5400T>A (p.Asn1800Lys) c.*4722T>A (n.*4722T>A) c.230+12022T>A c.5430T>A (p.Asn1810Lys) c.5325T>A (p.Asn1775Lys) c.5316T>A (p.Asn1772Lys) c.5277T>A (p.Asn1759Lys) c.5223T>A (p.Asn1741Lys) c.5127T>A (p.Asn1709Lys) c.5097T>A (p.Asn1699Lys) c.5022T>A (p.Asn1674Lys) c.4920T>A (p.Asn1640Lys) c.4551T>A (p.Asn1517Lys) | dbSNP |
| 5 | g.112840994T>C | CA041813 | APC | c.5454T>C (p.Asn1818=) c.*5406T>C (n.*5406T>C) c.5346T>C (p.Asn1782=) c.5400T>C (p.Asn1800=) c.*4722T>C (n.*4722T>C) c.230+12022T>C c.5430T>C (p.Asn1810=) c.5325T>C (p.Asn1775=) c.5316T>C (p.Asn1772=) c.5277T>C (p.Asn1759=) c.5223T>C (p.Asn1741=) c.5127T>C (p.Asn1709=) c.5097T>C (p.Asn1699=) c.5022T>C (p.Asn1674=) c.4920T>C (p.Asn1640=) c.4551T>C (p.Asn1517=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840994T>G | CA16033136 | APC | c.5454T>G (p.Asn1818Lys) c.*5406T>G (n.*5406T>G) c.5346T>G (p.Asn1782Lys) c.5400T>G (p.Asn1800Lys) c.*4722T>G (n.*4722T>G) c.230+12022T>G c.5430T>G (p.Asn1810Lys) c.5325T>G (p.Asn1775Lys) c.5316T>G (p.Asn1772Lys) c.5277T>G (p.Asn1759Lys) c.5223T>G (p.Asn1741Lys) c.5127T>G (p.Asn1709Lys) c.5097T>G (p.Asn1699Lys) c.5022T>G (p.Asn1674Lys) c.4920T>G (p.Asn1640Lys) c.4551T>G (p.Asn1517Lys) | |
| 5 | g.112840994T= | CA1573476081 | APC | c.5454T= (p.Asn1818=) c.*5406T= (n.*5406T=) c.5346T= (p.Asn1782=) c.5400T= (p.Asn1800=) c.*4722T= (n.*4722T=) c.230+12022T= c.5430T= (p.Asn1810=) c.5325T= (p.Asn1775=) c.5316T= (p.Asn1772=) c.5277T= (p.Asn1759=) c.5223T= (p.Asn1741=) c.5127T= (p.Asn1709=) c.5097T= (p.Asn1699=) c.5022T= (p.Asn1674=) c.4920T= (p.Asn1640=) c.4551T= (p.Asn1517=) | |
| 5 | g.112840995G>A | CA16033137 | APC | c.5455G>A (p.Ala1819Thr) c.*5407G>A (n.*5407G>A) c.5347G>A (p.Ala1783Thr) c.5401G>A (p.Ala1801Thr) c.*4723G>A (n.*4723G>A) c.230+12023G>A c.5431G>A (p.Ala1811Thr) c.5326G>A (p.Ala1776Thr) c.5317G>A (p.Ala1773Thr) c.5278G>A (p.Ala1760Thr) c.5224G>A (p.Ala1742Thr) c.5128G>A (p.Ala1710Thr) c.5098G>A (p.Ala1700Thr) c.5023G>A (p.Ala1675Thr) c.4921G>A (p.Ala1641Thr) c.4552G>A (p.Ala1518Thr) | dbSNP gnomAD v2 |
| 5 | g.112840995G>C | CA16033138 | APC | c.5455G>C (p.Ala1819Pro) c.*5407G>C (n.*5407G>C) c.5347G>C (p.Ala1783Pro) c.5401G>C (p.Ala1801Pro) c.*4723G>C (n.*4723G>C) c.230+12023G>C c.5431G>C (p.Ala1811Pro) c.5326G>C (p.Ala1776Pro) c.5317G>C (p.Ala1773Pro) c.5278G>C (p.Ala1760Pro) c.5224G>C (p.Ala1742Pro) c.5128G>C (p.Ala1710Pro) c.5098G>C (p.Ala1700Pro) c.5023G>C (p.Ala1675Pro) c.4921G>C (p.Ala1641Pro) c.4552G>C (p.Ala1518Pro) | dbSNP |
| 5 | g.112840995G= | CA1573476091 | APC | c.5455G= (p.Ala1819=) c.*5407G= (n.*5407G=) c.5347G= (p.Ala1783=) c.5401G= (p.Ala1801=) c.*4723G= (n.*4723G=) c.230+12023G= c.5431G= (p.Ala1811=) c.5326G= (p.Ala1776=) c.5317G= (p.Ala1773=) c.5278G= (p.Ala1760=) c.5224G= (p.Ala1742=) c.5128G= (p.Ala1710=) c.5098G= (p.Ala1700=) c.5023G= (p.Ala1675=) c.4921G= (p.Ala1641=) c.4552G= (p.Ala1518=) | |
| 5 | g.112840995G>T | CA16033139 | APC | c.5455G>T (p.Ala1819Ser) c.*5407G>T (n.*5407G>T) c.5347G>T (p.Ala1783Ser) c.5401G>T (p.Ala1801Ser) c.*4723G>T (n.*4723G>T) c.230+12023G>T c.5431G>T (p.Ala1811Ser) c.5326G>T (p.Ala1776Ser) c.5317G>T (p.Ala1773Ser) c.5278G>T (p.Ala1760Ser) c.5224G>T (p.Ala1742Ser) c.5128G>T (p.Ala1710Ser) c.5098G>T (p.Ala1700Ser) c.5023G>T (p.Ala1675Ser) c.4921G>T (p.Ala1641Ser) c.4552G>T (p.Ala1518Ser) | ClinVar dbSNP COSMIC |
| 5 | g.112840996C>A | CA16033140 | APC | c.5456C>A (p.Ala1819Asp) c.*5408C>A (n.*5408C>A) c.5348C>A (p.Ala1783Asp) c.5402C>A (p.Ala1801Asp) c.*4724C>A (n.*4724C>A) c.230+12024C>A c.5432C>A (p.Ala1811Asp) c.5327C>A (p.Ala1776Asp) c.5318C>A (p.Ala1773Asp) c.5279C>A (p.Ala1760Asp) c.5225C>A (p.Ala1742Asp) c.5129C>A (p.Ala1710Asp) c.5099C>A (p.Ala1700Asp) c.5024C>A (p.Ala1675Asp) c.4922C>A (p.Ala1641Asp) c.4553C>A (p.Ala1518Asp) | dbSNP |
| 5 | g.112840996C= | CA1573476101 | APC | c.5456C= (p.Ala1819=) c.*5408C= (n.*5408C=) c.5348C= (p.Ala1783=) c.5402C= (p.Ala1801=) c.*4724C= (n.*4724C=) c.230+12024C= c.5432C= (p.Ala1811=) c.5327C= (p.Ala1776=) c.5318C= (p.Ala1773=) c.5279C= (p.Ala1760=) c.5225C= (p.Ala1742=) c.5129C= (p.Ala1710=) c.5099C= (p.Ala1700=) c.5024C= (p.Ala1675=) c.4922C= (p.Ala1641=) c.4553C= (p.Ala1518=) | |
| 5 | g.112840996C>G | CA16033141 | APC | c.5456C>G (p.Ala1819Gly) c.*5408C>G (n.*5408C>G) c.5348C>G (p.Ala1783Gly) c.5402C>G (p.Ala1801Gly) c.*4724C>G (n.*4724C>G) c.230+12024C>G c.5432C>G (p.Ala1811Gly) c.5327C>G (p.Ala1776Gly) c.5318C>G (p.Ala1773Gly) c.5279C>G (p.Ala1760Gly) c.5225C>G (p.Ala1742Gly) c.5129C>G (p.Ala1710Gly) c.5099C>G (p.Ala1700Gly) c.5024C>G (p.Ala1675Gly) c.4922C>G (p.Ala1641Gly) c.4553C>G (p.Ala1518Gly) | ClinVar dbSNP |
| 5 | g.112840996C>T | CA10578403 | APC | c.5456C>T (p.Ala1819Val) c.*5408C>T (n.*5408C>T) c.5348C>T (p.Ala1783Val) c.5402C>T (p.Ala1801Val) c.*4724C>T (n.*4724C>T) c.230+12024C>T c.5432C>T (p.Ala1811Val) c.5327C>T (p.Ala1776Val) c.5318C>T (p.Ala1773Val) c.5279C>T (p.Ala1760Val) c.5225C>T (p.Ala1742Val) c.5129C>T (p.Ala1710Val) c.5099C>T (p.Ala1700Val) c.5024C>T (p.Ala1675Val) c.4922C>T (p.Ala1641Val) c.4553C>T (p.Ala1518Val) | ClinVar dbSNP gnomAD v4 |